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How is ALL diagnosed, and what tests should I expect?

Mark Litzow

September 5, 2025

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For World ALL Day 2025, Know ALL spoke to Mark Litzow, Mayo Clinic, Rochester, US. We asked, How is acute lymphoblastic leukemia (ALL) diagnosed, and what tests should I expect?

During this interview, Dr Litzow discusses how ALL is diagnosed and the tests patients can expect, explaining that diagnosis often begins when symptoms such as fatigue, night sweats, fevers, infections, or swollen lymph nodes lead to patients seeing their doctor and having a blood test. Abnormal results, such as low hemoglobin or platelets and the presence of leukemia cells called blasts, may cause the doctor to suspect ALL. To confirm the diagnosis, a bone marrow biopsy is typically performed. Samples from the biopsy are examined under a microscope and analyzed with advanced testing, including flow cytometry, cytogenetics, and molecular studies, to determine whether the leukemia is ALL or another type, such as acute myeloid leukemia, and to identify specific subtypes. Detecting particular genetic changes, such as the Philadelphia chromosome, is especially important because it guides treatment decisions. Additional tests, such as imaging scans, heart and organ function assessments, and blood tests, may also be conducted to fully evaluate the disease and prepare for therapy.

This educational resource is independently supported by Amgen. All content was developed by SES in collaboration with an expert ambassador group. Funders were allowed no influence on the content of this resource.